Canonical Allele Identifier: CA405224219

Gene: PEPD

Linked Data

• gnomAD v4: 19-33401768-T-G
• MyVariant Identifiers: chr19:g.33892674T>G (hg19) ; chr19:g.33401768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401768T>G , CM000681.2:g.33401768T>G	GRCh38
NC_000019.9:g.33892674T>G , CM000681.1:g.33892674T>G	GRCh37
NC_000019.8:g.38584514T>G	NCBI36
NG_013358.1:g.125126A>C
NG_013358.2:g.125126A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.920A>C	ENSP00000468516.4:p.Glu307Ala
ENST00000651901.2:c.920A>C	ENSP00000498922.2:p.Glu307Ala
ENST00000698359.1:c.875A>C	ENSP00000513682.1:p.Glu292Ala
ENST00000698360.1:c.971A>C	ENSP00000513683.1:p.Glu324Ala
ENST00000698361.1:c.920A>C	ENSP00000513684.1:p.Glu307Ala
ENST00000698362.1:c.920A>C	ENSP00000513685.1:p.Glu307Ala
ENST00000698363.1:n.983A>C
ENST00000698364.1:n.983A>C
ENST00000698365.1:n.983A>C
ENST00000698426.1:c.599A>C	ENSP00000513713.1:p.Glu200Ala
ENST00000698427.1:c.962A>C	ENSP00000513714.1:p.Glu321Ala
ENST00000698428.1:c.599A>C	ENSP00000513715.1:p.Glu200Ala
ENST00000698429.1:n.803A>C
ENST00000698430.1:c.1170A>C
ENST00000698431.1:c.657A>C	ENSP00000513717.1:n.657A>C
ENST00000698432.1:c.729A>C
ENST00000698433.1:n.382A>C
ENST00000698434.1:n.407A>C
ENST00000244137.12:c.920A>C MANE Select	ENSP00000244137.5:p.Glu307Ala
ENST00000588328.6:c.909A>C
ENST00000590731.6:n.595A>C
ENST00000651901.1:c.916A>C
ENST00000244137.11:c.920A>C	ENSP00000244137.5:p.Glu307Ala
ENST00000397032.8:c.797A>C	ENSP00000380226.3:p.Glu266Ala
ENST00000436370.7:c.728A>C	ENSP00000391890.2:p.Glu243Ala
ENST00000588328.5:c.411A>C
NM_000285.3:c.920A>C	NP_000276.2:p.Glu307Ala
NM_001166056.1:c.797A>C	NP_001159528.1:p.Glu266Ala
NM_001166057.1:c.728A>C	NP_001159529.1:p.Glu243Ala
NM_000285.4:c.920A>C MANE Select	NP_000276.2:p.Glu307Ala
NM_001166056.2:c.797A>C	NP_001159528.1:p.Glu266Ala
NM_001166057.2:c.728A>C	NP_001159529.1:p.Glu243Ala